Results 201 to 210 of about 97,306 (265)

A proteomic investigation of forebrain regeneration in the leopard gecko (Eublepharis macularius)

open access: yesDevelopmental Dynamics, EarlyView.
Our investigation reveals ontogenetic, injury‐ and regeneration‐associated proteomic changes in the leopard gecko forebrain. Abstract Background The ability to replace lost or damaged neurons following an injury is termed reactive neurogenesis. Although reactive neurogenesis has been reported in several lizard species, the molecular mechanisms ...
Alexandra I. Noble   +2 more
wiley   +1 more source

Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay

open access: yesEpilepsia, EarlyView.
Abstract Objective STXBP1‐related disorders (STXBP1‐RD) are among the most common genetic neurodevelopmental disorders, marked by early onset epilepsy, global developmental delay, and motor impairments. Many missense variants remain uncharacterized, limiting accurate variant interpretation and hindering development of precision therapies.
Elisa A. Waxman   +11 more
wiley   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

open access: yesEpilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang   +3 more
wiley   +1 more source

Combating ageing beyond the cell: Emerging roles of extracellular proteostasis. [PDF]

open access: yesFEBS J
Venkatesh SR   +7 more
europepmc   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

open access: yesEpilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia   +4 more
wiley   +1 more source

Protein Homeostasis and Mitochondrial Quality Control in Neurodegeneration. [PDF]

open access: yesWIREs Mech Dis
Di Lorenzo R   +5 more
europepmc   +1 more source

Computational protein stability analysis of SCN1A missense variants reveals domain‐dependent stability patterns

open access: yesEpilepsia Open, EarlyView.
Abstract Objective To determine whether computational protein‐stability predictions discriminate pathogenic from benign SCN1A missense variants, and to characterize the structural distribution of predicted destabilization among pathogenic variants. Methods On an AlphaFold3‐predicted Nav1.1 structure, FoldX, and Rosetta Cartesian ΔΔG were computed for a
Youngkyu Shim   +3 more
wiley   +1 more source

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